Canonical Allele Identifier: CA2511584

Gene: CPOX

Linked Data

• ClinVar Variation Id: 346979
• ClinVar RCV Id: RCV000271442 ; RCV001844135 ; RCV001699469 ; RCV001517926
• dbSNP Id: rs1131857
• ExAC: 3:98307696 T / G
• gnomAD v2: 3-98307696-T-G
• gnomAD v3: 3-98588852-T-G
• gnomAD v4: 3-98588852-T-G
• MyVariant Identifiers: chr3:g.98307696T>G (hg19) ; chr3:g.98588852T>G (hg38)
• PubMed: PMID:15967199 ; PMID:19339664

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98588852T>G , CM000665.2:g.98588852T>G	GRCh38
NC_000003.11:g.98307696T>G , CM000665.1:g.98307696T>G	GRCh37
NC_000003.10:g.99790386T>G	NCBI36
NG_015994.1:g.9760A>C
NG_015994.2:g.9760A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647941.2:c.814A>C MANE Select	ENSP00000497326.1:p.Asn272His
ENST00000264193.2:c.814A>C	ENSP00000264193.2:p.Asn272His
NM_000097.5:c.814A>C	NP_000088.3:p.Asn272His
XM_005247125.3:c.814A>C	XP_005247182.1:p.Asn272His
XM_011512437.1:c.814A>C	XP_011510739.1:p.Asn272His
NM_000097.7:c.814A>C MANE Select	NP_000088.3:p.Asn272His
XM_005247125.4:c.814A>C	XP_005247182.1:p.Asn272His
XR_001740025.2:n.985A>C
XR_001740026.1:n.990A>C
XR_001740027.1:n.1089A>C
XR_001740028.1:n.1055A>C